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Variant (rsID / SNP)

rs140730386

SBF2

rs140730386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 9,878,031. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SBF2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:9878031
Cytoband
11p15.4
HGVS
NM_030962.4(SBF2):c.2337C>T (p.Ser779=)
Allele change
Synonymous_S779S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B2|Charcot-Marie-Tooth disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.